Duplication hotspots, rare genomic disorders, and common disease

The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hotspots and thei...

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Bibliographic Details
Published in:Current opinion in genetics & development 2009-06, Vol.19 (3), p.196-204
Main Authors: Mefford, Heather C, Eichler, Evan E
Format: Article
Language:English
Subjects:
Autistic Disorder - genetics
Chromosome Deletion
Epilepsy - genetics
Gene Duplication
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease - genetics
Genome, Human - genetics
Humans
Medical Education
Models, Genetic
Schizophrenia - genetics
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Summary:The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hotspots and their association with both syndromic and nonsyndromic diseases. Studies of common complex genetic disease show that a subset of these recurrent events plays an important role in autism, schizophrenia, and epilepsy. The genomic hotspot model may provide a powerful approach for understanding the role of rare variants in common disease.
ISSN:0959-437X
1879-0380
DOI:10.1016/j.gde.2009.04.003